Results 91 to 100 of about 108,719 (194)
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich +3 more
wiley +1 more source
Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard +12 more
wiley +1 more source
The Neural Mechanism for Latent Nystagmus
, 2009 To elucidate the neural mechanism for unstable gaze holding in the form of latent fixation nystagmus. Latent nystagmus (LN) is the most common subtype of pathologic nystagmus observed in human and non-human primates.
Lawrence Tychsen, MD
core
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
The Ups and Downs of Infantile Nystagmus Syndrome in Adulthood
, 2021 Infantile nystagmus syndrome (INS) is a common cause of abnormal eye movements during childhood. However, INS might reach adulthood unnoticed and mimic acquired forms of jerk nystagmus. We aimed to highlight the pitfalls of INS diagnosis in adulthood, by
André Jorge; Ana Inês Martins; João Lemos
core
Journal of Small Animal Practice, EarlyView.Objectives To retrospectively evaluate the long‐term clinical outcomes of lateral ear canal resection performed as part of routine clinical practice for chronic otitis externa in dogs, and to re‐evaluate the practical utility of lateral ear canal resection from the perspective of contemporary treatment goals emphasising long‐term maintenance of a ...
K. Kiriki, A. Yabuzoe, K. Iyori
wiley +1 more source
S84-41631 Optokinetic Nystagmus
This image reflects a graph titled Optokinetic Nystagmus, STS-7 ...
core
Chapter 2: Infantile Nystagmus Syndrome
, 2012 Nystagmus in infancy and childhood outlines the understanding, evaluation, and treatments of nystagmus in infancy and childhood. Aligning this condition with advanced concepts of developmental brain-eye diseases and summarizing novel treatment paradigms,
Richard W. Hertle MD, FACS, FAAO, FAAP; Louis F. Dell\u27Osso, PhD
core
Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein +3 more
wiley +1 more source
Editorial: Improving visual deficits with perceptual learning
Frontiers in Psychology, 2015 Gianluca eCampana +3 more
doaj +1 more source